rs28942088
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(G;G) | 0 | common in clinvar |
Make rs28942088(C;T) |
Make rs28942088(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 102504196 |
Gene | ACTR1A, SUFU |
is a | snp |
is | mentioned by |
dbSNP | rs28942088 |
dbSNP (classic) | rs28942088 |
ClinGen | rs28942088 |
ebi | rs28942088 |
HLI | rs28942088 |
Exac | rs28942088 |
Gnomad | rs28942088 |
Varsome | rs28942088 |
LitVar | rs28942088 |
Map | rs28942088 |
PheGenI | rs28942088 |
Biobank | rs28942088 |
1000 genomes | rs28942088 |
hgdp | rs28942088 |
ensembl | rs28942088 |
geneview | rs28942088 |
scholar | rs28942088 |
rs28942088 | |
pharmgkb | rs28942088 |
gwascentral | rs28942088 |
openSNP | rs28942088 |
23andMe | rs28942088 |
SNPshot | rs28942088 |
SNPdbe | rs28942088 |
MSV3d | rs28942088 |
GWAS Ctlg | rs28942088 |
Max Magnitude | 0 |
NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP
ClinVar | |
---|---|
Risk | rs28942088(A;A) |
Alt | rs28942088(A;A) |
Reference | Rs28942088(G;G) |
Significance | Pathogenic |
Disease | Medulloblastoma |
Variation | info |
Gene | SUFU ACTR1A |
CLNDBN | Medulloblastoma |
Reversed | 1 |
HGVS | NC_000010.10:g.104263953C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003750.4, |